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1.

Predictors of 6-year event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor.

Sokol, Ronald J; Gonzales, Emmanuel M; Kamath, Binita M; Baker, Alastair; Vig, Pamela; Mogul, Douglas B; Garner, Will; Hansen, Bettina E; Jacquemin, Emmanuel; Thompson, Richard J.

Hepatology ; 78(6): 1698-1710, 2023 Dec 01.

Artículo en Inglés | MEDLINE | ID: mdl-37278241

2.

Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy.

Harpavat, Sanjiv; Hawthorne, Kieran; Setchell, Kenneth D R; Rivas, Monica Narvaez; Henn, Lisa; Beil, Charlotte A; Karpen, Saul J; Ng, Vicky L; Alonso, Estella M; Bezerra, Jorge A; Guthery, Stephen L; Horslen, Simon; Loomes, Kathy M; McKiernan, Patrick; Magee, John C; Merion, Robert M; Molleston, Jean P; Rosenthal, Philip; Thompson, Richard J; Wang, Kasper S; Sokol, Ronald J; Shneider, Benjamin L.

Hepatology ; 77(3): 862-873, 2023 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-36131538

3.

Genetic aetiologies of acute liver failure.

Hegarty, Robert; Thompson, Richard J.

J Inherit Metab Dis ; 2024 Mar 18.

Artículo en Inglés | MEDLINE | ID: mdl-38499319

4.

Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.

Hegarty, Robert; Gurra, Olivia; Tarawally, Jenneh; Allouni, Sammi; Rahman, Obydur; Strautnieks, Sandra; Kyrana, Eirini; Hadzic, Nedim; Thompson, Richard J; Grammatikopoulos, Tassos.

J Pediatr Gastroenterol Nutr ; 78(2): 339-349, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-38374565

5.

ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants.

Nayagam, Jeremy S; Jeyaraj, Rebecca; Foskett, Pierre; Dhawan, Anil; Ala, Aftab; Joshi, Deepak; Bomford, Adrian; Thompson, Richard J.

Clin Gastroenterol Hepatol ; 21(5): 1323-1329.e4, 2023 05.

Artículo en Inglés | MEDLINE | ID: mdl-36096368

6.

Hepatic Dry Copper Weight in Pediatric Autoimmune Liver Disease.

Nayagam, Jeremy S; Joshi, Deepak; Thompson, Richard J; Dhawan, Anil; Hadzic, Nedim; Mestre-Alagarda, Claudia; Deheragoda, Maesha; Samyn, Marianne.

J Pediatr Gastroenterol Nutr ; 76(2): e21-e26, 2023 02 01.

Artículo en Inglés | MEDLINE | ID: mdl-36332083

7.

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

van Wessel, Daan B E; Thompson, Richard J; Gonzales, Emmanuel; Jankowska, Irena; Shneider, Benjamin L; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipinski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Algoufi, Talal; Mazhar, Nejat; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B F; Serranti, Daniele; Arikan, Cigdem; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsofi, Antal; Luigi Calvo, Pier; Krebs-Schmitt, Dorothee; Hartleif, Steffen; van der Woerd, Wendy L; Wang, Jian-She; Li, Li-Ting; Durmaz, Özlem; Kerkar, Nanda; Hørby Jørgensen, Marianne; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noémie; Targa Ferreira, Cristina; Ordonez, Felipe.

Hepatology ; 74(2): 892-906, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-33666275

8.

Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.

Hegarty, Robert; Gibson, Philippa; Sambrotta, Melissa; Strautnieks, Sandra; Foskett, Pierre; Ellard, Sian; Baptista, Julia; Lillis, Suzanne; Bansal, Sanjay; Vara, Roshni; Dhawan, Anil; Grammatikopoulos, Tassos; Thompson, Richard J.

J Pediatr ; 236: 124-130, 2021 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-34023347

9.

Cholestasis Due to USP53 Deficiency.

Bull, Laura N; Ellmers, Rebecca; Foskett, Pierre; Strautnieks, Sandra; Sambrotta, Melissa; Czubkowski, Piotr; Jankowska, Irena; Wagner, Bart; Deheragoda, Maesha; Thompson, Richard J.

J Pediatr Gastroenterol Nutr ; 72(5): 667-673, 2021 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-33075013

10.

Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults.

Karpen, Saul J; Kamath, Binita M; Alexander, John J; Ichetovkin, Ilia; Rosenthal, Philip; Sokol, Ronald J; Dunn, Shelley; Thompson, Richard J; Heubi, James E.

J Pediatr Gastroenterol Nutr ; 72(5): 654-660, 2021 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-33720099

11.

Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.

Hertel, Paula M; Bull, Laura N; Thompson, Richard J; Goodrich, Nathan P; Ye, Wen; Magee, John C; Squires, Robert H; Bass, Lee M; Heubi, James E; Kim, Grace E; Ranganathan, Sarangarajan; Schwarz, Kathleen B; Bozic, Molly A; Horslen, Simon P; Clifton, Matthew S; Turmelle, Yumirle P; Suchy, Frederick J; Superina, Riccardo A; Wang, Kasper S; Loomes, Kathleen M; Kamath, Binita M; Sokol, Ronald J; Shneider, Benjamin L.

J Pediatr Gastroenterol Nutr ; 73(2): 169-177, 2021 08 01.

Artículo en Inglés | MEDLINE | ID: mdl-34016879

12.

Genotype correlates with the natural history of severe bile salt export pump deficiency.

van Wessel, Daan B E; Thompson, Richard J; Gonzales, Emmanuel; Jankowska, Irena; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipinski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Algoufi, Talal; Mazhar, Nejat; Nicastro, Emanuele; Kelly, Deirdre A; Nebbia, Gabriella; Arnell, Henrik; Hulscher, Jan B F; Serranti, Daniele; Arikan, Cigdem; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsofi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Sturm, Ekkehard; van der Woerd, Wendy J; Kamath, Binita M; Wang, Jian-She; Li, Liting; Durmaz, Özlem; Onal, Zerrin; Bunt, Ton M G; Hansen, Bettina E; Verkade, Henkjan J.

J Hepatol ; 73(1): 84-93, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32087350

13.

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.

Berauer, John-Paul; Mezina, Anya I; Okou, David T; Sabo, Aniko; Muzny, Donna M; Gibbs, Richard A; Hegde, Madhuri R; Chopra, Pankaj; Cutler, David J; Perlmutter, David H; Bull, Laura N; Thompson, Richard J; Loomes, Kathleen M; Spinner, Nancy B; Rajagopalan, Ramakrishnan; Guthery, Stephen L; Moore, Barry; Yandell, Mark; Harpavat, Sanjiv; Magee, John C; Kamath, Binita M; Molleston, Jean P; Bezerra, Jorge A; Murray, Karen F; Alonso, Estella M; Rosenthal, Philip; Squires, Robert H; Wang, Kasper S; Finegold, Milton J; Russo, Pierre; Sherker, Averell H; Sokol, Ronald J; Karpen, Saul J.

Hepatology ; 70(3): 899-910, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-30664273

14.

Systematic Review and Meta-analysis: Partial External Biliary Diversion in Progressive Familial Intrahepatic Cholestasis.

Verkade, Henkjan J; Thompson, Richard J; Arnell, Henrik; Fischler, Björn; Gillberg, Per-Göran; Mattsson, Jan P; Torfgård, Kristina; Lindström, Erik.

J Pediatr Gastroenterol Nutr ; 71(2): 176-183, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32433433

15.

Mutations in Myosin 5B in Children With Early-onset Cholestasis.

Cockar, Iram; Foskett, Pierre; Strautnieks, Sandra; Clinch, Yasmin; Fustok, Jana; Rahman, Obydur; Sutton, Harry; Mtegha, Marumbo; Fessatou, Smaragdi; Kontaki, Elena; Papaevangelou, Vassiliki; Deheragoda, Maesha; Thompson, Richard J; Grammatikopoulos, Tassos.

J Pediatr Gastroenterol Nutr ; 71(2): 184-188, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32304554

16.

Genetic cholestasis in children and adults.

Nayagam, Jeremy S; Miquel, Rosa; Thompson, Richard J; Joshi, Deepak.

J Hepatol ; 80(4): 670-672, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38296707

17.

Choluresis?

Thompson, Richard J.

Hepatology ; 78(3): 689-690, 2023 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-37204176

18.

Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism.

Grammatikopoulos, Tassos; Deheragoda, Maesha; Strautnieks, Sandra; Neves Souza, Lara; Hinds, Rupert; Thompson, Richard J; Hadzic, Nedim.

J Pediatr ; 200: 181-187, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29935878

19.

Challenges in understanding the consequences of variants in ABCB4 gene.

Nayagam, Jeremy S; Strautnieks, Sandra; Joshi, Deepak; Thompson, Richard J.

J Hepatol ; 74(1): 242-243, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-32988656

20.

Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

Grammatikopoulos, Tassos; Sambrotta, Melissa; Strautnieks, Sandra; Foskett, Pierre; Knisely, A S; Wagner, Bart; Deheragoda, Maesha; Starling, Chris; Mieli-Vergani, Giorgina; Smith, Joshua; Bull, Laura; Thompson, Richard J.

J Hepatol ; 65(6): 1179-1187, 2016 12.

Artículo en Inglés | MEDLINE | ID: mdl-27469900

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